Journal article
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy
Epilepsy research, Vol.117, pp.70-73
11/2015
DOI: 10.1016/j.eplepsyres.2015.09.007
PMID: 26421493
Abstract
•Genetic analysis of patients with generalized epilepsy was performed.•Three missense variants in CHRNA7 and CHRFAM7A were found.•The common 2-bp deletion in CHRFAM7A was not enriched in patients.•Missense variants contribute to complex inheritance in generalized epilepsy.
The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially schizophrenia. Deficiency of the acetylcholine receptor gene CHRNA7 and the partial duplication, CHRFAM7A, may contribute to these phenotypes and we sought to comprehensively analyze these genes in genetic generalized epilepsy. We analyzed using DHPLC, Sanger sequencing and long range PCR, 174 probands with genetic generalized epilepsy with or without intellectual disability or psychosis, including 8 with the recurrent 15q13.3 microdeletion. We searched CHRNA7 and CHRFAM7A for single sequence variants, small copy number variants, and the common 2-bp deletion in CHRFAM7A. We identified two novel and one reported missense variants. The common 2-bp deletion was not enriched in patients compared to controls. Our data suggest that missense mutations in CHRNA7 contribute to complex inheritance in genetic generalized epilepsy in a similar fashion to the 15q13.3 microdeletion. They do not support a pathogenic role for the common 2-bp CHRFAM7A deletion.
Details
- Title: Subtitle
- Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy
- Creators
- John A Damiano - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaSaul A Mullen - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaMichael S Hildebrand - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaSusannah T Bellows - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaKate M Lawrence - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaTodor Arsov - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaLeanne Dibbens - Division of Health Sciences, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia 5000, AustraliaHeather Major - Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USAHans-Henrik M Dahl - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaHeather C Mefford - Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USABenjamin W Darbro - Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USAIngrid E Scheffer - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, AustraliaSamuel F Berkovic - Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia
- Resource Type
- Journal article
- Publication Details
- Epilepsy research, Vol.117, pp.70-73
- DOI
- 10.1016/j.eplepsyres.2015.09.007
- PMID
- 26421493
- NLM abbreviation
- Epilepsy Res
- ISSN
- 0920-1211
- eISSN
- 1872-6844
- Publisher
- Elsevier B.V
- Grant note
- DOI: 10.13039/501100000925, name: National Health and Medical Research Council, award: 628952
- Language
- English
- Date published
- 11/2015
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093344902771
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